April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
3 citations
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July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 17 is important for skin's response to radiation, affecting many genes and cell division.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
54 citations
,
October 2023 in “Oncogene” p63 is essential for controlling epithelial stem cells and tissue health.
38 citations
,
July 2019 in “Nature Communications” Par3 protein is essential for skin cell balance and stability.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
11 citations
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May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” Identical p53 gene mutations in different cancers suggest the need for careful treatment.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
April 2020 in “The FASEB Journal” Loss of Rap1 protein speeds up heart aging in mice.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” ZDHHC17 methylation may help treat or identify facial skin aging.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
1 citations
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
8 citations
,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
Arabidopsis Formin 2 stabilizes actin filaments, affecting cell-to-cell movement and virus susceptibility.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
February 2020 in “Definitions” KRT72 gene helps form hair.
September 2023 in “Plant journal” A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.